List of variants reported as pathogenic by Neil Romberg Laboratory, Children's Hospital of Philadelphia

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)	rs2062432605
NM_000377.3(WAS):c.1405dup (p.Ala469fs)	rs2062432653
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs)	rs1565638431
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter)	rs2142884393
NM_003120.3(SPI1):c.363C>G (p.Tyr121Ter)	rs2095916574
NM_003120.3(SPI1):c.632A>C (p.His211Pro)	rs2095906547
NM_003120.3(SPI1):c.693_694del (p.Leu232fs)	rs773877800
NM_003120.3(SPI1):c.722T>G (p.Val241Gly)	rs2095906404

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